Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige

Preferred Label : Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige;

Symbol : EPKHE;

CISMeF acronym : EPKHE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Severe dermatitis, multiple allergies, and metabolic wasting syndrome; Sam syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the desmoglein 1 gene (DSG1, 125670.0008);

Laboratory abnormalities : Severe hypernatremia in neonatal period;

Prefixed ID : #615508;

Details

Origin ID

615508;

UMLS CUI

C3809719;

Automatic exact mappings (from CISMeF team)
- DSG1 wt Allele [NCIt concept]
- SAMS syndrome [PASCAL descriptor]
- Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Severe dermatitis, multiple allergies, metabolic wasting syndrome (disorder) [SNOMED CT concept]
- Severe dermatitis-multiple allergies-metabolic wasting syndrome [ORDO Disease]
False automatic mappings
- Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Desmoglein 1 [OMIM gene]
HPO term(s)
- Acantholysis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Erythroderma [HPO term]
- Growth delay [HPO term]
- Hypergranulosis [HPO term]
- Hypernatremia [HPO term]
- Hypotrichosis [HPO term]
- Orthokeratosis [HPO term]
- Palmoplantar keratoderma [HPO term]
- Psoriasiform dermatitis [HPO term]
- Pulmonic stenosis [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent skin infections [HPO term]
- Sparse hair [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Severe dermatitis-multiple allergies-metabolic wasting syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Severe dermatitis, multiple allergies, metabolic wasting syndrome (disorder) [SNOMED CT concept]

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